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| Cardiomyopathy_Paediatric v1.89 | SHOC2 | Zornitza Stark Marked gene: SHOC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.89 | SHOC2 | Zornitza Stark Gene: shoc2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.89 | SHOC2 | Zornitza Stark Phenotypes for gene: SHOC2 were changed from Noonan-like syndrome with loose anagen hair; syndromic HCM to Noonan syndrome-like disorder with loose anagen hair, MONDO:0011899 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.88 | SHOC2 | Zornitza Stark reviewed gene: SHOC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32870709, 31059601, 30732632; Phenotypes: Noonan syndrome-like disorder with loose anagen hair, MONDO:0011899; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.0 | SHOC2 | Gene migrated from ENSG00000108061 to ENSG00000108061 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.0 | SHOC2 |
Zornitza Stark gene: SHOC2 was added gene: SHOC2 was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH Mode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SHOC2 were set to 23918763; 19684605; 22528146 Phenotypes for gene: SHOC2 were set to Noonan-like syndrome with loose anagen hair; syndromic HCM Mode of pathogenicity for gene: SHOC2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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